D53N (p.Asp53Asn) variant of COMT (Catechol O-methyltransferase)
D53N (p.Asp53Asn) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- cosmic curated COSV52889
- Missense
- Variant Prioritization Score for Impact Estimate 0.0961
- REVEL 0.07
- CADD 9.03
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available